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Article

A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures.

The Annals of otology, rhinology, and laryngology - 1 Nov 2023

Rastad Hadith, Samimisedeh Parham, Savad Shahram, Seifi Alan Mahnaz

Abstract excerpt

BACKGROUND: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity. OBJECTIVES: To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene. METHODS: Case reports and review of literatures. RESULTS: In this study, the proband was a...

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PMID: 37009772
DOI: 10.1177/00034894231161866

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